Canonical Allele Identifier: CA349434781

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539956A>T , CM000664.2:g.178539956A>T GRCh38
NC_000002.11:g.179404683A>T , CM000664.1:g.179404683A>T GRCh37
NC_000002.10:g.179112929A>T NCBI36
NG_011618.3:g.295847T>A , LRG_391:g.295847T>A
NG_051363.1:g.22130A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.90405T>A (TTN) ENSP00000343764.6:p.Asp30135Glu
ENST00000342175.11:c.71490T>A (TTN) ENSP00000340554.6:p.Asp23830Glu
ENST00000359218.10:c.71289T>A (TTN) ENSP00000352154.5:p.Asp23763Glu
ENST00000342175.10:c.71490T>A (TTN) ENSP00000340554.6:p.Asp23830Glu
ENST00000342992.10:c.90405T>A (TTN) ENSP00000343764.6:p.Asp30135Glu
ENST00000359218.9:c.71289T>A (TTN) ENSP00000352154.5:p.Asp23763Glu
ENST00000460472.6:c.70914T>A (TTN) ENSP00000434586.1:p.Asp23638Glu
ENST00000589042.5:c.98109T>A (TTN) MANE Select ENSP00000467141.1:p.Asp32703Glu
ENST00000591111.5:c.93186T>A (TTN) ENSP00000465570.1:p.Asp31062Glu
ENST00000615779.4:c.93186T>A (TTN) ENSP00000483597.1:p.Asp31062Glu
NM_001256850.1:c.93186T>A (TTN) NP_001243779.1:p.Asp31062Glu
NM_001267550.2:c.98109T>A (TTN) MANE Select NP_001254479.2:p.Asp32703Glu
NM_003319.4:c.70914T>A (TTN) NP_003310.4:p.Asp23638Glu
NM_133378.4:c.90405T>A (TTN) NP_596869.4:p.Asp30135Glu
NM_133432.3:c.71289T>A (TTN) NP_597676.3:p.Asp23763Glu
NM_133437.4:c.71490T>A (TTN) NP_597681.4:p.Asp23830Glu
NR_038271.1:n.446+16320A>T (TTN-AS1)
NR_038272.1:n.1840+66A>T (TTN-AS1)
XM_011511729.1:c.97206T>A (TTN) XP_011510031.1:p.Asp32402Glu
XM_011511730.1:c.71100T>A (TTN) XP_011510032.1:p.Asp23700Glu
XM_011511731.1:c.70959T>A (TTN) XP_011510033.1:p.Asp23653Glu
XM_017004819.1:c.97002T>A (TTN) XP_016860308.1:p.Asp32334Glu
XM_017004820.1:c.92400T>A (TTN) XP_016860309.1:p.Asp30800Glu
XM_017004821.1:c.92397T>A (TTN) XP_016860310.1:p.Asp30799Glu
XM_017004822.1:c.89439T>A (TTN) XP_016860311.1:p.Asp29813Glu
XM_017004823.1:c.71055T>A (TTN) XP_016860312.1:p.Asp23685Glu
XM_024453094.1:c.92550T>A (TTN) XP_024308862.1:p.Asp30850Glu
XM_024453095.1:c.92547T>A (TTN) XP_024308863.1:p.Asp30849Glu
XM_024453096.1:c.91980T>A (TTN) XP_024308864.1:p.Asp30660Glu
XM_024453097.1:c.89322T>A (TTN) XP_024308865.1:p.Asp29774Glu
XM_024453098.1:c.89241T>A (TTN) XP_024308866.1:p.Asp29747Glu
XM_024453099.1:c.71004T>A (TTN) XP_024308867.1:p.Asp23668Glu
XM_024453100.1:c.60858T>A (TTN) XP_024308868.1:p.Asp20286Glu